Siblings battle disease that destroys sight, hearing

LAKE STEVENS — Jodi Carter was diagnosed with hearing problems at age 3 and has needed hearing aids her whole life.

It wasn’t until 2009, when her mother asked her to pick up a pen that she suddenly realized there was another problem.

“I couldn’t find the pen because it was in my peripheral vision,” she said. “That’s when it dawned on us something was wrong.”

Carter was diagnosed with a type of Usher syndrome, a genetic disease that affects about one in 6,000 people. It can profoundly affect hearing, and causes night blindness and vision loss leading to tunnel vision.

“You lose peripheral vision and keep vision in the center,” said Jennifer Phillips, a University of Oregon senior research associate. Phillips and others at the university’s Westerfield Laboratory, part of the Institute of Neuroscience, have been researching the disease for the past decade.

For Carter, 34, it forced a change in her job. She previously worked in sales for Columbia Distributing, a local beer and wine distributor.

“I had to switch jobs two years ago,” she said. “I couldn’t do the driving any more. The company has worked with me and got me in the office now.”

Carter, who graduated from Lake Stevens High School in 1997, said the signs of her disease could have led to a diagnosis much earlier in life. “I should have been diagnosed as a child,” she said.

“It’s a slow progressive disease. There’s nothing they can do to stop it. There’s no cure for it. That’s why it’s such a depressing disease.”

A fundraiser is scheduled tonight in Snohomish to benefit research on the disease.

Carter is one of two siblings in her family to be diagnosed with the most common type of Usher syndrome. Her brother, Ryan Thomason, 31, a Lake Stevens High School graduate who now lives in Utah, was diagnosed in 2008.

Thomason said his vision problems sometimes cause him to miss a stair or accidently bump into his two children. “I can’t see them,” he said. “You get island vision.”

Nevertheless, Thomason recently competed in the rugged Utah Spartan Beast, a 13-mile course that he described as extreme obstacle racing.

“It was probably the scariest thing I’ve ever done in my life considering … how bad my vision is,” he said. “I couldn’t wear my hearing aids. I was competing deaf and nearly blind. It was a blast.”

Usher is a hard disease to live with, not knowing when your vision will get worse, he said. “But I’m not going to let it stop me from doing what I want to in my life. You’ve got to make use of what you can while you can.”

Thomason met Phillips, the University of Oregon researcher, while attending an Usher syndrome family conference in Portland earlier this year.

There are more than 10 different gene defects that can lead to some form of Usher syndrome, Phillips said.

If both parents are carriers of the disease, each of their children will have a one in four chance of inheriting it, Phillips said. The disease is carried on a chromosome that is equally found among men and women, she said.

The vision problems for the type of Usher syndrome that Carter and Thomason have often begin with people in their mid- to late teens. In their late 20s to 30s, patients need to begin transitioning from a life of being deaf to being deaf and legally blind, she said.

A test of gene therapy to treat one form of the disease is now underway in Portland, Phillips said. But it is not for the most common type of Usher syndrome, which Carter and Thomason both have.

The type they have involves a very large gene, Phillips said. The challenge is finding ways to treat the symptoms of their form of the disease.

If such a treatment could be found, it could start before major vision problems begin. “Since vision loss is slow and progressive, you have time to get in there and do something before significant vision is lost,” Phillips said.

If the gene can’t be worked on directly, the alternative would be finding a way to treat the symptoms, she said. “Can we stop what’s happening to slow down the vision loss by someone for two, five or 10 years, as a step toward finding an ultimate cure?

“If we can just slow down what’s happening, that would be a huge benefit.”

Sharon Salyer: 425-339-3486; salyer@heraldnet.com.

Benefit

A dodgeball tournament is scheduled for 6 tonight at Snohomish Sports Institute, 1820 Bickford Ave. in Snohomish. Proceeds will go to Usher Syndrome Research Fund at the University of Oregon.

The benefit is in honor of Jodi Carter and Ryan Thomason, who grew up in Lake Stevens. Both have the genetic disorder.

Registration is $20 per person. For more information, go to www.aconcertinthegarden.com